RGD:13783669 Rat Genome Database

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Variant: RGD:13783669 -  Homo sapiens

RGD ID: 13783669
RS ID: rs1186161867
ClinVar ID: CV540759
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LAMB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 209,801,379
GRCh38 1 209,628,034
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007116.1:g.29442G>A
NC_000001.11:g.209628034C>T
NC_000001.10:g.209801379C>T
NM_000228.3:c.1288+1G>A
More... 		10/12/2021 splice donor variant pathogenic|likely pathogenic EPIDERMOLYSIS BULLOSA JUNCTIONALIS, HERLITZ TYPE; Epidermolysis Bullosa Letalis; EPIDERMOLYSIS BULLOSA, JUNCTIONAL 1B, SEVERE; Epidermolysis bullosa, junctional, Herlitz-Pearson type; Herlitz-Pearson type epidermolysis bullosa; Herlitz-type junctional epidermolysis bullosa; JEB-HERLITZ TYPE; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LAMB3
Accession:NM_001017402
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_000228
Location:INTRON

Gene Symbol:LAMB3
Accession:NM_001127641
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_005273124
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_047420351
Location:INTRON

Gene Symbol:LAMB3
Accession:XM_017001272
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11023379   PMID:16199547   PMID:16473856   PMID:25708563   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000670229 CLINVAR
  RCV001861788 CLINVAR
dbSNP (RS) rs1186161867 CLINVAR
MedGen C0079683 CLINVAR
  C3661900 CLINVAR
NCBI Gene LAMB3 CLINVAR
OMIM 150310 CLINVAR
  226700 CLINVAR
SNOMED CT 400140006 CLINVAR